IFT172, intraflagellar transport 172, 26160

N. diseases: 123; N. variants: 31
Disease: SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777079
rs587777079
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
CUI: C3810175
Disease:
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY 		0.800 GeneticVariation UNIPROT Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. 24140113 2013
dbSNP: rs587777085
rs587777085
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
CUI: C3810175
Disease:
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY 		0.800 GeneticVariation UNIPROT Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. 24140113 2013
dbSNP: rs149614625
rs149614625
Entrez Id: 26160;200634
Gene Symbol: IFT172;KRTCAP3
IFT172;KRTCAP3
CUI: C3810175
Disease:
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY 		0.800 GeneticVariation UNIPROT
dbSNP: rs149614625
rs149614625
Entrez Id: 26160;200634
Gene Symbol: IFT172;KRTCAP3
IFT172;KRTCAP3
CUI: C3810175
Disease:
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY 		G 0.800 CausalMutation CLINVAR
dbSNP: rs587777079
rs587777079
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
CUI: C3810175
Disease:
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY 		A 0.800 CausalMutation CLINVAR
dbSNP: rs587777085
rs587777085
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
CUI: C3810175
Disease:
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY 		T 0.800 CausalMutation CLINVAR
dbSNP: rs587777080
rs587777080
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
CUI: C3810175
Disease:
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY 		0.700 GeneticVariation UNIPROT Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. 24140113 2013
dbSNP: rs1250676888
rs1250676888
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
CUI: C3810175
Disease:
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY 		A 0.700 CausalMutation CLINVAR
dbSNP: rs139021548
rs139021548
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
CUI: C3810175
Disease:
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs145541911
rs145541911
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
CUI: C3810175
Disease:
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY 		0.700 GeneticVariation UNIPROT
dbSNP: rs750338419
rs750338419
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
CUI: C3810175
Disease:
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY 		AT 0.700 CausalMutation CLINVAR